Abstract:We reported a case of a 19‐year‐old male patient with central nervous system symptoms as the main clinical manifestations, and multiple intracranial and abdominal occupying lesions visualized by imaging examinations, who was initially misdiagnosed as NK/T‐cell lymphoma but poorly responsive to the treatment. Finally, he was diagnosed as familial hemophagocytic lymphohistiocytosis type‐2 by genome sequencing, perforin test and pedigree study. The patient survived well after allogeneic hematopoietic stem cell tr… Show more
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